D42N (p.Asp42Asn) variant of MYO15A (Unconventional myosin-XV)
D42N (p.Asp42Asn) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- ExAC rs754996079
- gnomAD rs754996079
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 20.70
- PolyPhen-2 0.64
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available